ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828296458
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1385887
ClinVar RCV Id:
RCV001871471
RCV002478248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355830.1:p.Pro36_Gln38del
CA5933863
NM_001368901.2:c.106_114del